Analysis of a Novel AVPR2 Mutation in a Turkish Family with Nephrogenic Diabetes Insipidus

作者：Yaylali Guzin Fidan; Bichet Daniel G; Okur Volkan; Levin Klaus; Semerci C Nur^*

来源：International Journal of Human Genetics, 2013, 13(3): 171-175.

• Nephrogenic Diabetes Insipitus
• X-linked Recessive Disorder
• AVPR2
• mutation

Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive disorder associated with germline mutations of the arginine vasopressin (AVP) receptor type 2 (AVPR2) gene. The researchers describe a novel mutation in the AVPR2 gene in a three-generational Turkish family with NDI. In the present report, a 22-year-old man is reported with polyuria and bilateral non-obstructive hydronephrosis. He Was diagnosed with partial NDI based on the clinical phenotype, the water deprivation test and the inadequate response to 1-desamino-8-Darginine vasopressin (DDAVP),administration. All family members who were suspected to have diabetes insipidus and/or related symptoms were studied. Sequencing analysis of the AVPR2 gene revealed the novel missense mutation c.392 T>C; p. Leu 131 Pro:L131P (AVPR2 gene (coding seq # NM_000054.4;prot seq # NP_000045.1). In conclusion, the proband carries a novel AVPR2 missense mutation inherited from his carrier mother.

• 出版日期2013-9